MCID: PLY006
MIFTS: 59

Polydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Polydactyly

MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 57 11 19 75 28 53 5 43 14 38 31 33
Non-Syndromic Polydactyly 19 58
Polydactyly, Postaxial 43 71
Postaxial Polydactyly 11
Supernumerary Digits 19
Supernumerary Digit 11
Polydactylism 19
Extra Digits 19
Hyperdactyly 19
Polydactylia 19

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:1148
OMIM® 57 603596
ICD9CM 34 755.0
NCIt 49 C87110
SNOMED-CT 68 205119005
ICD10 31 Q69 Q69.9
MESH via Orphanet 44 D017689
UMLS via Orphanet 72 C0152427
Orphanet 58 ORPHA2913
MedGen 40 C0152427
UMLS 71 C0152427 C0220697

Summaries for Polydactyly

GARD: 19 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional.

MalaCards based summary: Polydactyly, also known as non-syndromic polydactyly, is related to short-rib thoracic dysplasia 6 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Polydactyly is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. The drugs Clonidine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and nervous system

Disease Ontology: 11 A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.

Wikipedia: 75 Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), also... more...

More information from OMIM: 603596

Related Diseases for Polydactyly

Diseases in the Polydactyly family:

Central Polydactyly

Diseases related to Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 756)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 6 with or without polydactyly 33.3 GLI3 DYNC2I1 DYNC2H1 CPLANE1 BBS1
2 short-rib thoracic dysplasia 3 with or without polydactyly 33.3 DYNC2I1 DYNC2H1 BBS4
3 polydactyly, preaxial ii 33.2 SHH LMBR1
4 mckusick-kaufman syndrome 33.0 TTC8 MKS1 MKKS GLI3 BBS4 BBS2
5 short-rib thoracic dysplasia 8 with or without polydactyly 33.0 DYNC2I1 DYNC2H1
6 culler-jones syndrome 33.0 SHH GLI3 GLI2
7 short-rib thoracic dysplasia 11 with or without polydactyly 32.9 DYNC2I1 DYNC2H1
8 acrocallosal syndrome 32.9 SHH LMBR1 GLI3 CPLANE1 CC2D2A BBS4
9 orofaciodigital syndrome vi 32.9 GLI3 CPLANE1 CC2D2A
10 tibia, hypoplasia or aplasia of, with polydactyly 32.7 SHH LMBR1 HOXD13 GLI3
11 short-rib thoracic dysplasia 1 with or without polydactyly 32.7 DYNC2I1 DYNC2H1 CPLANE1 CC2D2A
12 ellis-van creveld syndrome 32.6 SHH MKKS GLI3 GLI2 DYNC2I1 DYNC2H1
13 asphyxiating thoracic dystrophy 32.6 SHH MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1
14 bardet-biedl syndrome 1 32.5 MKKS BBS4 BBS2 BBS1
15 pallister-hall syndrome 32.5 SHH LMBR1 HOXD13 GLI3 GLI2
16 meckel syndrome, type 1 32.4 TTC8 SHH MKS1 MKKS GLI3 DYNC2H1
17 bardet-biedl syndrome 32.4 TTC8 MKS1 MKKS GLI3 DYNC2I1 DYNC2H1
18 laurin-sandrow syndrome 32.4 SHH MIPOL1 LMBR1 HOXD13 GLI3
19 bardet-biedl syndrome 11 32.3 TTC8 MKS1 MKKS BBS4 BBS2 BBS1
20 bardet-biedl syndrome 6 32.3 MKKS BBS4 BBS1
21 bardet-biedl syndrome 17 32.2 BBS2 BBS1
22 greig cephalopolysyndactyly syndrome 32.2 SHH LMBR1 HOXD13 GLI3 GLI2
23 joubert syndrome 32 32.1 SHH GLI3 GLI2
24 bardet-biedl syndrome 10 32.1 BBS4 BBS1
25 meckel syndrome, type 3 32.1 MKS1 CC2D2A
26 bardet-biedl syndrome 13 32.1 MKS1 MKKS BBS2
27 bardet-biedl syndrome 19 32.0 TTC8 MKS1 BBS4 BBS2 BBS1
28 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 32.0 SHH LMBR1 GLI3
29 syndactyly, type iv 32.0 SHH LMBR1 HOXD13 GLI3
30 focal dermal hypoplasia 31.9 SHH GLI3 GLI2
31 holoprosencephaly 9 31.9 SHH GLI3 GLI2
32 orofaciodigital syndrome 31.9 MKS1 GLI3 CPLANE1 CC2D2A BBS4
33 joubert syndrome 1 31.8 TTC8 SHH MKS1 MKKS GLI3 GLI2
34 joubert syndrome 2 31.8 MKS1 CC2D2A
35 bardet-biedl syndrome 18 31.8 TTC8 MKS1 MKKS BBS4 BBS2 BBS1
36 synpolydactyly 31.8 SHH LMBR1 HOXD13 GLI3
37 basal cell nevus syndrome 31.6 SHH GLI3 GLI2 BRCA2
38 apert syndrome 31.6 SHH MEGF8 GLI3
39 situs inversus 31.0 SHH MKS1 DYNC2H1 CC2D2A BBS4 BBS2
40 retinitis pigmentosa 31.0 TTC8 SHH MKS1 MKKS DYNC2H1 CC2D2A
41 chromosome 2q35 duplication syndrome 30.8 TTC8 SHH MKS1 MKKS MEGF8 LMBR1
42 anus, imperforate 30.7 SHH HOXD13 GLI3 GLI2
43 retinal degeneration 30.7 MKKS DYNC2I1 DYNC2H1 BBS4 BBS1
44 encephalocele 30.7 MKS1 CPLANE1 CC2D2A
45 radial hemimelia 30.6 SHH LMBR1
46 cranioectodermal dysplasia 30.6 MKS1 GLI3 DYNC2I1 DYNC2H1 CC2D2A BBS4
47 cone dystrophy 30.6 TTC8 MKKS BBS4 BBS2 BBS1
48 alobar holoprosencephaly 30.5 SHH GLI2
49 coloboma of macula 30.5 SHH MKS1 GLI3 CPLANE1 CC2D2A
50 tetralogy of fallot 30.4 SHH MKKS BBS4 BBS2 BBS1

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly

Symptoms & Phenotypes for Polydactyly

Clinical features from OMIM®:

603596 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Polydactyly:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
2 nervous system MP:0003631 10.44 BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
3 limbs/digits/tail MP:0005371 10.39 BBS1 BBS2 BRCA2 CC2D2A CPLANE1 DYNC2H1
4 renal/urinary system MP:0005367 10.37 BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
5 embryo MP:0005380 10.36 BBS1 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
6 cellular MP:0005384 10.33 BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
7 digestive/alimentary MP:0005381 10.31 BBS2 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
8 craniofacial MP:0005382 10.29 BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
9 cardiovascular system MP:0005385 10.25 BBS1 BBS4 CC2D2A CPLANE1 DYNC2H1 DYNC2I1
10 respiratory system MP:0005388 10.22 BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
11 hearing/vestibular/ear MP:0005377 10.19 BBS1 BBS4 CC2D2A CPLANE1 GLI2 GLI3
12 normal MP:0002873 10.18 BBS2 BBS4 BRCA2 ETV2 GLI2 GLI3
13 vision/eye MP:0005391 10.13 BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
14 reproductive system MP:0005389 10.07 BBS1 BBS2 BBS4 BRCA2 GLI2 GLI3
15 skeleton MP:0005390 10.06 BBS2 BRCA2 CPLANE1 DYNC2H1 GLI2 GLI3
16 mortality/aging MP:0010768 9.91 BBS1 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
17 taste/olfaction MP:0005394 9.7 BBS1 BBS2 BBS4 GLI3 MKKS SHH
18 integument MP:0010771 9.32 BBS2 BBS4 BRCA2 CC2D2A GLI2 GLI3

Drugs & Therapeutics for Polydactyly

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
2 Neurotransmitter Agents Phase 4
3 Adrenergic alpha-Agonists Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic Agents Phase 4
6 Antihypertensive Agents Phase 4
7 Pharmaceutical Solutions Phase 4
8 Analgesics Phase 4
9 Sympatholytics Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Recruiting NCT04564430 Phase 4 Catapresan
2 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
3 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Genetic Tests for Polydactyly

Genetic tests related to Polydactyly:

# Genetic test Affiliating Genes
1 Polydactyly 28

Anatomical Context for Polydactyly

Organs/tissues related to Polydactyly:

MalaCards : Bone, Heart, Kidney, Tongue, Pituitary, Eye, Brain

Publications for Polydactyly

Articles related to Polydactyly:

(show top 50) (show all 3554)
# Title Authors PMID Year
1
C5orf42 is the major gene responsible for OFD syndrome type VI. 62 5
24178751 2014
2
Polydactyly: how many disorders and how many genes? 62 57
12357471 2002
3
Associated anomalies in individuals with polydactyly. 62 57
9880209 1998
4
Epidemiological analysis of rare polydactylies. 62 57
8923939 1996
5
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. 5
29168297 2018
6
Clinical genetics of craniosynostosis. 5
28914635 2017
7
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 5
23063620 2012
8
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 53 62
20142850 2010
9
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. 53 62
18925664 2008
10
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 53 62
18766993 2008
11
Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. 53 62
18689889 2008
12
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. 53 62
18272352 2008
13
Holoprosencephaly-Polydactyly syndrome: in search of an etiology. 53 62
18178536 2008
14
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 53 62
18252212 2008
15
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 53 62
17300748 2007
16
Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb. 53 62
17300775 2007
17
Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. 53 62
16650944 2006
18
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 53 62
16606853 2006
19
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 53 62
16308660 2006
20
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. 53 62
16865294 2006
21
Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. 53 62
16874813 2006
22
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 53 62
15772095 2005
23
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 53 62
16440883 2005
24
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 53 62
15581864 2004
25
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 53 62
12620993 2003
26
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. 53 62
12365916 2002
27
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 53 62
11850178 2002
28
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 53 62
11606546 2001
29
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 53 62
11381270 2001
30
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 53 62
10441570 1999
31
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 53 62
10441342 1999
32
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. 53 62
9600232 1998
33
Point mutations in human GLI3 cause Greig syndrome. 53 62
9302279 1997
34
Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2. 62
36268591 2023
35
Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls. 62
36125884 2023
36
Reconstruction of polysyndactyly of the fused fifth toe with the fourth toe. 62
36445381 2023
37
Prenatal diagnosis of Bardet Biedl Syndrome: A case report. 62
36406960 2023
38
[Bardet Biedl syndrome: a case report]. 62
36374067 2022
39
Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report. 62
36340607 2022
40
First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome. 62
35250252 2022
41
Primary treatment of type B post-axial ulnar polydactyly: A systematic review and meta-analysis. 62
36120500 2022
42
Ulnar dimelia and a rare variant ulnar trimelia: Case reports. 62
36247697 2022
43
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype. 62
35951741 2022
44
New insights into CC2D2A-related Joubert syndrome. 62
36319078 2022
45
New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot. 62
36348750 2022
46
Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants. 62
33631987 2022
47
Characterization of a novel deep intronic variant In DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. 62
36442996 2022
48
Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft. 62
36427972 2022
49
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. 62
36398383 2022
50
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. 62
36341712 2022

Variations for Polydactyly

ClinVar genetic disease variations for Polydactyly:

5 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEGF8 NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) DEL Pathogenic
1162320 GRCh37: 19:42862352-42862352
GRCh38: 19:42358200-42358200
2 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic
374019 rs200750564 GRCh37: 2:176959246-176959246
GRCh38: 2:176094518-176094518
3 MKS1 NM_017777.4(MKS1):c.1166-2A>C SNV Pathogenic
523519 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
4 MKS1 NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) SNV Pathogenic
1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
5 overlap with 668 genes GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) CN GAIN Pathogenic
1703544 GRCh37: 8:158048-146295771
GRCh38:
6 MKS1 NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) DEL Pathogenic
217677 rs754279998 GRCh37: 17:56285514-56285516
GRCh38: 17:58208153-58208155
7 overlap with 25 genes DEL Pathogenic
549857 GRCh37: 2:219925666-220914504
GRCh38:
8 CC2D2A NM_001378615.1(CC2D2A):c.4179+1del DEL Pathogenic
56312 rs386833760 GRCh37: 4:15589552-15589552
GRCh38: 4:15587929-15587929
9 BRCA2 NM_000059.4(BRCA2):c.9235del (p.Val3079fs) DEL Pathogenic
38221 rs397507422 GRCh37: 13:32954261-32954261
GRCh38: 13:32380124-32380124
10 SMAD6 NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) SNV Pathogenic
1174559 GRCh37: 15:66995598-66995598
GRCh38: 15:66703260-66703260
11 SMAD6 NM_005585.5(SMAD6):c.1227del (p.Ile410fs) DEL Pathogenic
1174576 GRCh37: 15:67073606-67073606
GRCh38: 15:66781268-66781268
12 ETV2 NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) SNV Likely Pathogenic
1162783 GRCh37: 19:36135178-36135178
GRCh38: 19:35644276-35644276
13 ETV2 NM_014209.4(ETV2):c.350del (p.Gly117fs) DEL Likely Pathogenic
1162784 GRCh37: 19:36134288-36134288
GRCh38: 19:35643386-35643386
14 CC2D2A NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs) DEL Likely Pathogenic
1077135 GRCh37: 4:15534845-15534845
GRCh38: 4:15533222-15533222
15 MEGF8 NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) DEL Likely Pathogenic
1164007 GRCh37: 19:42880357-42880359
GRCh38: 19:42376205-42376207
16 CPLANE1 NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs) INDEL Likely Pathogenic
978621 rs1787294032 GRCh37: 5:37196064-37196064
GRCh38: 5:37195962-37195962
17 CPLANE1 NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs) MICROSAT Likely Pathogenic
978622 rs1774291665 GRCh37: 5:37154059-37154060
GRCh38: 5:37153957-37153958
18 GLI3 NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) SNV Uncertain Significance
912024 rs147004305 GRCh37: 7:42005931-42005931
GRCh38: 7:41966333-41966333
19 GLI3 NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) SNV Uncertain Significance
912075 rs1787391168 GRCh37: 7:42012082-42012082
GRCh38: 7:41972483-41972483
20 GLI3 NM_000168.6(GLI3):c.*3002A>G SNV Uncertain Significance
910290 rs1484040578 GRCh37: 7:42000926-42000926
GRCh38: 7:41961328-41961328
21 GLI3 NM_000168.6(GLI3):c.*2861T>G SNV Uncertain Significance
910291 rs1787010195 GRCh37: 7:42001067-42001067
GRCh38: 7:41961469-41961469
22 GLI3 NM_000168.6(GLI3):c.*1553T>G SNV Uncertain Significance
910409 rs1787043241 GRCh37: 7:42002375-42002375
GRCh38: 7:41962777-41962777
23 GLI3 NM_000168.6(GLI3):c.*73C>T SNV Uncertain Significance
910584 rs1787093147 GRCh37: 7:42003855-42003855
GRCh38: 7:41964257-41964257
24 GLI3 NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) SNV Uncertain Significance
910687 rs368450304 GRCh37: 7:42004885-42004885
GRCh38: 7:41965287-41965287
25 GLI3 NM_000168.6(GLI3):c.*2744T>G SNV Uncertain Significance
911505 rs1050141162 GRCh37: 7:42001184-42001184
GRCh38: 7:41961586-41961586
26 GLI3 NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) SNV Uncertain Significance
910150 rs565817241 GRCh37: 7:42085033-42085033
GRCh38: 7:42045434-42045434
27 GLI3 NM_000168.6(GLI3):c.-78G>T SNV Uncertain Significance
360267 rs886062342 GRCh37: 7:42276605-42276605
GRCh38: 7:42237006-42237006
28 GLI3 NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) SNV Uncertain Significance
360240 rs141220299 GRCh37: 7:42012081-42012081
GRCh38: 7:41972482-41972482
29 GLI3 NM_000168.6(GLI3):c.*1471C>T SNV Uncertain Significance
360185 rs886062321 GRCh37: 7:42002457-42002457
GRCh38: 7:41962859-41962859
30 GLI3 NM_000168.6(GLI3):c.*3309C>A SNV Uncertain Significance
360157 rs553151369 GRCh37: 7:42000619-42000619
GRCh38: 7:41961021-41961021
31 GLI3 NM_000168.6(GLI3):c.*974T>A SNV Uncertain Significance
360199 rs886062328 GRCh37: 7:42002954-42002954
GRCh38: 7:41963356-41963356
32 GLI3 NM_000168.6(GLI3):c.*2676C>T SNV Uncertain Significance
360164 rs886062312 GRCh37: 7:42001252-42001252
GRCh38: 7:41961654-41961654
33 GLI3 NM_000168.6(GLI3):c.*2146_*2150del DEL Uncertain Significance
360176 rs774204684 GRCh37: 7:42001778-42001782
GRCh38: 7:41962180-41962184
34 GLI3 NM_000168.6(GLI3):c.*1027C>T SNV Uncertain Significance
360197 rs886062326 GRCh37: 7:42002901-42002901
GRCh38: 7:41963303-41963303
35 GLI3 NM_000168.6(GLI3):c.*66G>T SNV Uncertain Significance
360219 rs886062334 GRCh37: 7:42003862-42003862
GRCh38: 7:41964264-41964264
36 CC2D2A NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) SNV Uncertain Significance
56304 rs386833752 GRCh37: 4:15569352-15569352
GRCh38: 4:15567729-15567729
37 GLI3 NM_000168.6(GLI3):c.1648-7T>A SNV Uncertain Significance
908068 rs1787547025 GRCh37: 7:42017328-42017328
GRCh38: 7:41977729-41977729
38 GLI3 NM_000168.6(GLI3):c.*2612A>G SNV Uncertain Significance
908536 rs1583724689 GRCh37: 7:42001316-42001316
GRCh38: 7:41961718-41961718
39 GLI3 NM_000168.6(GLI3):c.*2089G>A SNV Uncertain Significance
908612 rs865942966 GRCh37: 7:42001839-42001839
GRCh38: 7:41962241-41962241
40 GLI3 NM_000168.6(GLI3):c.*1399T>C SNV Uncertain Significance
908682 rs1160002644 GRCh37: 7:42002529-42002529
GRCh38: 7:41962931-41962931
41 GLI3 NM_000168.6(GLI3):c.*889T>C SNV Uncertain Significance
908742 rs1318388633 GRCh37: 7:42003039-42003039
GRCh38: 7:41963441-41963441
42 GLI3 NM_000168.6(GLI3):c.*386A>G SNV Uncertain Significance
908799 rs951401550 GRCh37: 7:42003542-42003542
GRCh38: 7:41963944-41963944
43 GLI3 NM_000168.6(GLI3):c.*333A>G SNV Uncertain Significance
908800 rs1787080355 GRCh37: 7:42003595-42003595
GRCh38: 7:41963997-41963997
44 GLI3 NM_000168.6(GLI3):c.*311T>A SNV Uncertain Significance
908802 rs1189349323 GRCh37: 7:42003617-42003617
GRCh38: 7:41964019-41964019
45 GLI3 NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) SNV Uncertain Significance
908861 rs1787101579 GRCh37: 7:42004044-42004044
GRCh38: 7:41964446-41964446
46 GLI3 NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) SNV Uncertain Significance
908915 rs756685313 GRCh37: 7:42004655-42004655
GRCh38: 7:41965057-41965057
47 GLI3 NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) SNV Uncertain Significance
909046 rs780814828 GRCh37: 7:42005606-42005606
GRCh38: 7:41966008-41966008
48 GLI3 NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) SNV Uncertain Significance
909047 rs373643864 GRCh37: 7:42005631-42005631
GRCh38: 7:41966033-41966033
49 GLI3 NM_000168.6(GLI3):c.21C>T (p.Ser7=) SNV Uncertain Significance
909185 rs770954230 GRCh37: 7:42262832-42262832
GRCh38: 7:42223233-42223233
50 GLI3 NM_000168.6(GLI3):c.*2517G>A SNV Uncertain Significance
909401 rs568690074 GRCh37: 7:42001411-42001411
GRCh38: 7:41961813-41961813

Copy number variations for Polydactyly from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or deletion polydactyly

Expression for Polydactyly

Search GEO for disease gene expression data for Polydactyly.

Pathways for Polydactyly

Pathways related to Polydactyly according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 TTC8 MKS1 MKKS DYNC2I1 DYNC2H1 CC2D2A
2
Show member pathways
12.22 SHH MKS1 GLI3 GLI2 DYNC2H1
3 12.13 BBS1 BBS2 BBS4 DYNC2I1 MKS1 TTC8
4
Show member pathways
11.78 TTC8 MKKS BBS4 BBS2 BBS1
5 11.78 MKS1 GLI3 GLI2 CPLANE1 CC2D2A BBS4
6
Show member pathways
11.47 SMAD6 GLI3 GLI2
7
Show member pathways
11.46 TTC8 MKS1 MKKS GLI3 DYNC2I1 DYNC2H1
8 11.43 TTC8 SHH MKS1 CPLANE1 CC2D2A BBS4
9 11.32 SHH GLI3 GLI2
10 11.28 SHH GLI3 GLI2
11 11.21 SHH GLI3 GLI2
12
Show member pathways
11.17 SHH GLI3 GLI2
13 10.74 DYNC2I1 DYNC2H1
14
Show member pathways
10.52 SHH GLI3

GO Terms for Polydactyly

Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.34 TTC8 MKS1 MKKS DYNC2I1 BRCA2 BBS4
2 ciliary basal body GO:0036064 10.13 BBS2 BBS4 MKKS MKS1 TTC8
3 cytoskeleton GO:0005856 10.11 BBS1 BBS2 BBS4 BRCA2 CC2D2A DYNC2H1
4 axoneme GO:0005930 10.07 GLI3 GLI2 DYNC2H1 BBS1
5 ciliary membrane GO:0060170 10.06 TTC8 BBS4 BBS2 BBS1
6 motile cilium GO:0031514 10.06 MKKS GLI2 DYNC2H1 BBS4 BBS2 BBS1
7 ciliary tip GO:0097542 10.03 GLI3 GLI2 DYNC2I1 DYNC2H1
8 ciliary base GO:0097546 10.01 GLI3 GLI2 DYNC2I1
9 ciliary transition zone GO:0035869 9.95 MKS1 CPLANE1 CC2D2A BBS4
10 microtubule organizing center GO:0005815 9.86 TTC8 MKS1 MKKS DYNC2I1 BRCA2 BBS4
11 BBSome GO:0034464 9.76 BBS1 BBS2 BBS4 TTC8
12 cell projection GO:0042995 9.7 TTC8 MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1
13 GLI-SUFU complex GO:1990788 9.69 GLI3 GLI2
14 cilium GO:0005929 9.55 TTC8 MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 10.33 GLI2 GLI3 SHH TTC8
2 hippocampus development GO:0021766 10.27 MKKS GLI3 BBS4 BBS2 BBS1
3 heart development GO:0007507 10.27 CC2D2A CPLANE1 DYNC2H1 GLI2 GLI3 MKKS
4 smoothened signaling pathway GO:0007224 10.26 CC2D2A GLI2 GLI3 SHH
5 cerebral cortex development GO:0021987 10.26 MKKS BBS4 BBS2 BBS1
6 photoreceptor cell maintenance GO:0045494 10.22 BBS1 BBS2 BBS4 MKKS
7 cartilage development GO:0051216 10.21 MKKS BBS2 BBS1
8 gene expression GO:0010467 10.21 SHH MKKS GLI2 BBS4 BBS2
9 heart looping GO:0001947 10.2 SHH MKKS BBS4
10 odontogenesis of dentin-containing tooth GO:0042475 10.19 SHH GLI3 GLI2
11 protein localization to cilium GO:0061512 10.18 DYNC2H1 BBS4 BBS1
12 negative regulation of GTPase activity GO:0034260 10.18 TTC8 MKKS BBS4
13 positive regulation of multicellular organism growth GO:0040018 10.17 BBS2 BBS4 MKKS
14 adult behavior GO:0030534 10.17 BBS4 BBS2 BBS1
15 brain morphogenesis GO:0048854 10.17 MKKS BBS4 BBS2 BBS1
16 anterior/posterior pattern specification GO:0009952 10.16 SHH HOXD13 GLI3 GLI2
17 kidney development GO:0001822 10.16 SHH GLI3 GLI2 DYNC2H1 CPLANE1 CC2D2A
18 cilium assembly GO:0060271 10.16 BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
19 fat cell differentiation GO:0045444 10.15 BBS1 BBS2 BBS4 MKKS SMAD6 TTC8
20 branching morphogenesis of an epithelial tube GO:0048754 10.14 SHH MKS1 GLI3 GLI2
21 roof of mouth development GO:0060021 10.13 SHH GLI3 CPLANE1
22 melanosome transport GO:0032402 10.13 MKKS BBS4 BBS2
23 coronary vasculature development GO:0060976 10.13 CPLANE1 DYNC2H1 MEGF8 SMAD6
24 response to stimulus GO:0050896 10.12 MKKS BRCA2 BBS4 BBS2 BBS1
25 forebrain development GO:0030900 10.12 DYNC2H1 GLI3 SHH
26 regulation of stress fiber assembly GO:0051492 10.12 BBS4 MKKS TTC8
27 camera-type eye development GO:0043010 10.11 SHH GLI3 CC2D2A
28 embryonic skeletal system morphogenesis GO:0048704 10.11 DYNC2I1 GLI3 MEGF8
29 stem cell proliferation GO:0072089 10.11 SHH GLI3 GLI2 BRCA2
30 pattern specification process GO:0007389 10.1 SHH HOXD13 GLI3 GLI2
31 dorsal/ventral pattern formation GO:0009953 10.1 DYNC2H1 GLI2 GLI3 SHH
32 negative regulation of smoothened signaling pathway GO:0045879 10.07 MEGF8 GLI3 GLI2
33 developmental growth GO:0048589 10.07 SHH GLI3 GLI2
34 striatum development GO:0021756 10.06 BBS1 BBS2 BBS4 MKKS
35 negative thymic T cell selection GO:0045060 10.04 SHH GLI3
36 limb morphogenesis GO:0035108 10.04 MEGF8 HOXD13 GLI3
37 positive regulation of T cell differentiation in thymus GO:0033089 10.03 SHH GLI2
38 artery smooth muscle contraction GO:0014824 10.03 MKKS BBS2
39 hindgut morphogenesis GO:0007442 10.03 GLI2 GLI3 SHH
40 embryonic limb morphogenesis GO:0030326 10.03 SHH MEGF8 HOXD13 GLI3 DYNC2H1
41 embryonic digit morphogenesis GO:0042733 10.03 CPLANE1 GLI2 GLI3 HOXD13 LMBR1 MKS1
42 artery development GO:0060840 10.02 SHH GLI3
43 positive regulation of alpha-beta T cell differentiation GO:0046638 10.02 SHH GLI3
44 alpha-beta T cell differentiation GO:0046632 10.02 SHH GLI3
45 determination of left/right symmetry GO:0007368 10.02 SHH MKS1 MKKS MEGF8 DYNC2H1 CC2D2A
46 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 10.01 BBS2 BBS4 MKKS
47 regulation of cilium beat frequency involved in ciliary motility GO:0060296 10.01 MKKS BBS4 BBS2 BBS1
48 ventral midline development GO:0007418 9.99 GLI2 SHH
49 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.98 GLI2 GLI3
50 negative regulation of alpha-beta T cell differentiation GO:0046639 9.98 GLI3 SHH

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.32 TTC8 MKKS BBS4 BBS2 BBS1
2 patched binding GO:0005113 9.26 SHH BBS1

Sources for Polydactyly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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